Tag: genetic disorder

Online Mendelian Inheritance in Man. It is an authoritative compendium of human genes and phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relation ...

The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts. Releases: https://githu ...

LOINC is a common language (set of identifiers, names, and codes) for clinical and laboratory observations. LOINC is a catalog of measurements, including laboratory tests, clinical measures like vital signs and anthropomorphic measures, standardized ...

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes as well as the relationship between them, that is freely available and updated daily. The OMIM ontology contains terms used within the OMIM database.

The Leiden Open Variation Database (LOVD) provides a flexible, freely available tool for gene-centered collection and display of DNA variations. LOVD also stores patient-centered data, NGS data, and variants outside of genes.

A registry of Hereditary Auto-inflammatory Disorder Mutations.

Online Mendelian Inheritance in Animals is a a database of inherited disorders, other (single-locus) traits, and genes in animal species (other than human and mouse).

PathBank is an interactive, visual database containing more than 100 000 machine-readable pathways found in model organisms such as humans, mice, E. coli, yeast, and Arabidopsis thaliana. The majority of these pathways are not found in any other path ...

The ITHANET Portal represents an expanding resource for clinicians and researchers dealing with haemoglobinopathies and a port of call for patients in search of professional advice. The ITHANET Portal integrates information on news, events, clinical ...

International Dystrophic Epidermolysis Bullosa Patient Registry (DEB Register) provides phenotypic and genotypic information on DEB and the related COL7A1 mutations. The registry is intended to aid in disease diagnosis, genetic counseling, and discov ...

KinMutBase is a comprehensive database of disease-causing mutations in protein kinase domains. This resources provides plenty of information, namely mutation statistics and display, clickable sequences with mutations and changes to restriction enzyme ...

The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotyp ...

Ontology for Genetic Susceptibility Factor (OGSF) is an application ontology to model/represent the notion of genetic susceptibility to a specific disease or an adverse event or a pathological biological process. It is developed using BFO 2.0's frame ...

The Centre for Arab Genomic Studies (CAGS) initiated the ambitious project to establish the CTGA (Catalogue of Transmission Genetics in Arabs) database for genetic disorders in Arabs with the aim to enlighten the scientific community and the public o ...

A comprehensive database established to offer a web-based access to founder mutation data in Mediterranean population. The database provides an overview about the spectrum of founder mutations found in Mediterranean population to the scientific commu ...

The Moroccan Genetic Disease Database (MGDD) collect and document mutations and frequencies of polymorphisms reported in the Moroccan population. The information in the MGDD allow researchers and clinicians to find mutations associated to a given dis ...

DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology. DDIEM uses this ontology to categorize the expe ...

DDIEM Ontology for the Drug Database for Inborn Errors of Metabolism. The DDIEM database is a database of therapeutic strategies and treatments for inborn errors of metabolism. These strategies are classified by mechanism and outcome using the DDIEM ...

Focused on the molecular etiology, pathogenesis, and clinical manifestations of genetic diseases and disorders of glycan metabolism and developed as a knowledge-base for this scientific field, GGDonto provides comprehensive information on various top ...